Incidental Mutation 'IGL01395:Gucy2c'
ID 79400
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gucy2c
Ensembl Gene ENSMUSG00000042638
Gene Name guanylate cyclase 2c
Synonyms GC-C
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01395
Quality Score
Status
Chromosome 6
Chromosomal Location 136674282-136758740 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 136675027 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 1019 (Q1019K)
Ref Sequence ENSEMBL: ENSMUSP00000032338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032338] [ENSMUST00000078095]
AlphaFold Q3UWA6
Predicted Effect probably damaging
Transcript: ENSMUST00000032338
AA Change: Q1019K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032338
Gene: ENSMUSG00000042638
AA Change: Q1019K

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:ANF_receptor 113 384 3.7e-8 PFAM
transmembrane domain 432 454 N/A INTRINSIC
Pfam:Pkinase_Tyr 498 744 3.4e-33 PFAM
Pfam:Pkinase 499 744 1e-26 PFAM
CYCc 787 982 2.68e-107 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000078095
AA Change: Q995K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000077236
Gene: ENSMUSG00000042638
AA Change: Q995K

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:ANF_receptor 53 385 2.7e-41 PFAM
transmembrane domain 432 454 N/A INTRINSIC
Pfam:Pkinase_Tyr 475 720 6.5e-32 PFAM
Pfam:Pkinase 480 720 7.2e-25 PFAM
CYCc 763 958 2.68e-107 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203395
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein that functions as a receptor for endogenous peptides guanylin and uroguanylin, and the heat-stable E. coli enterotoxin. The encoded protein activates the cystic fibrosis transmembrane conductance regulator. Mutations in this gene are associated with familial diarrhea (autosomal dominant) and meconium ileus (autosomal recessive). [provided by RefSeq, Nov 2016]
PHENOTYPE: Homozygous null mice are viable and have an increased resistance to heat-stable enterotoxins. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 C T 18: 67,575,880 (GRCm39) R52H probably benign Het
Alg8 T A 7: 97,027,383 (GRCm39) Y84N possibly damaging Het
B3gnt4 T A 5: 123,649,131 (GRCm39) F165L probably damaging Het
Calcrl T C 2: 84,198,919 (GRCm39) I157V probably benign Het
Clpx T C 9: 65,209,133 (GRCm39) S83P probably benign Het
Col7a1 G A 9: 108,812,980 (GRCm39) probably benign Het
Cttn A G 7: 144,011,464 (GRCm39) V115A probably damaging Het
Dcaf1 G A 9: 106,735,361 (GRCm39) V770I possibly damaging Het
Ddx19a A G 8: 111,717,164 (GRCm39) probably benign Het
Dennd6a T A 14: 26,338,056 (GRCm39) Y175* probably null Het
Dhx58 C T 11: 100,594,752 (GRCm39) G48D probably damaging Het
Dnah8 T A 17: 30,854,979 (GRCm39) F178I probably benign Het
Eif5b T C 1: 38,076,339 (GRCm39) I629T probably damaging Het
Frrs1 A G 3: 116,694,654 (GRCm39) I492V probably benign Het
Gm16505 G A 13: 3,411,242 (GRCm39) noncoding transcript Het
Golga4 G A 9: 118,364,441 (GRCm39) G259D probably damaging Het
Gpatch8 T C 11: 102,371,534 (GRCm39) H668R unknown Het
Hivep2 T C 10: 14,008,544 (GRCm39) probably null Het
Jph2 T C 2: 163,181,847 (GRCm39) N439S probably benign Het
Knl1 T A 2: 118,902,047 (GRCm39) D1249E probably damaging Het
Lrrc37a A G 11: 103,394,687 (GRCm39) V246A probably benign Het
Mast1 T C 8: 85,639,444 (GRCm39) D1295G possibly damaging Het
Mical2 T A 7: 111,922,792 (GRCm39) M599K probably damaging Het
Nr3c2 T C 8: 77,635,477 (GRCm39) S193P possibly damaging Het
Nr4a2 T A 2: 57,002,165 (GRCm39) Q33L probably damaging Het
Nrap A T 19: 56,350,225 (GRCm39) M514K probably damaging Het
Or1d2 T C 11: 74,255,713 (GRCm39) F73L probably damaging Het
Or5ac16 T A 16: 59,022,460 (GRCm39) T110S possibly damaging Het
Or9i2 A T 19: 13,816,316 (GRCm39) S74T probably damaging Het
Pde5a T C 3: 122,611,604 (GRCm39) I514T probably benign Het
Plxna4 A G 6: 32,216,368 (GRCm39) V569A probably damaging Het
Ppm1k T C 6: 57,490,943 (GRCm39) H324R probably benign Het
Prdm5 A G 6: 65,847,374 (GRCm39) H155R possibly damaging Het
Prpf19 C T 19: 10,878,375 (GRCm39) T287I probably damaging Het
Prpf8 C A 11: 75,385,121 (GRCm39) A794D possibly damaging Het
Pygb C A 2: 150,643,503 (GRCm39) Q97K probably benign Het
Rab27b T C 18: 70,118,288 (GRCm39) K210E probably benign Het
Rttn T G 18: 89,147,894 (GRCm39) N2182K possibly damaging Het
Rusc1 T C 3: 88,999,728 (GRCm39) Q18R probably damaging Het
Stat4 C T 1: 52,051,033 (GRCm39) R31W probably damaging Het
Tas2r135 T A 6: 42,382,846 (GRCm39) C128* probably null Het
Tm9sf3 T C 19: 41,244,715 (GRCm39) E54G probably damaging Het
Tmx1 A T 12: 70,507,251 (GRCm39) probably null Het
Tnrc6c T A 11: 117,613,939 (GRCm39) V859E probably benign Het
Uggt1 T C 1: 36,194,158 (GRCm39) D1360G probably damaging Het
Other mutations in Gucy2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00849:Gucy2c APN 6 136,742,612 (GRCm39) missense probably benign 0.01
IGL01081:Gucy2c APN 6 136,679,737 (GRCm39) missense probably damaging 1.00
IGL01285:Gucy2c APN 6 136,686,739 (GRCm39) missense probably damaging 1.00
IGL01408:Gucy2c APN 6 136,675,009 (GRCm39) missense probably benign 0.19
IGL01752:Gucy2c APN 6 136,747,106 (GRCm39) missense probably benign 0.10
IGL01766:Gucy2c APN 6 136,692,971 (GRCm39) missense probably benign 0.43
IGL02245:Gucy2c APN 6 136,706,201 (GRCm39) missense probably benign 0.00
IGL02648:Gucy2c APN 6 136,706,211 (GRCm39) nonsense probably null
IGL02794:Gucy2c APN 6 136,690,146 (GRCm39) missense probably damaging 1.00
IGL03023:Gucy2c APN 6 136,679,794 (GRCm39) splice site probably null
IGL03178:Gucy2c APN 6 136,706,237 (GRCm39) splice site probably benign
IGL03310:Gucy2c APN 6 136,728,044 (GRCm39) missense probably benign
IGL03374:Gucy2c APN 6 136,742,628 (GRCm39) missense probably benign 0.00
IGL03393:Gucy2c APN 6 136,696,665 (GRCm39) missense probably benign 0.04
BB001:Gucy2c UTSW 6 136,740,053 (GRCm39) missense probably benign 0.35
BB011:Gucy2c UTSW 6 136,740,053 (GRCm39) missense probably benign 0.35
R0031:Gucy2c UTSW 6 136,674,997 (GRCm39) missense probably damaging 0.99
R0128:Gucy2c UTSW 6 136,681,247 (GRCm39) missense probably damaging 1.00
R0377:Gucy2c UTSW 6 136,727,915 (GRCm39) critical splice donor site probably null
R0593:Gucy2c UTSW 6 136,705,333 (GRCm39) missense probably damaging 0.99
R0613:Gucy2c UTSW 6 136,737,721 (GRCm39) missense probably damaging 1.00
R0723:Gucy2c UTSW 6 136,704,799 (GRCm39) splice site probably null
R0828:Gucy2c UTSW 6 136,686,746 (GRCm39) missense probably damaging 1.00
R0837:Gucy2c UTSW 6 136,699,418 (GRCm39) missense probably damaging 0.99
R0880:Gucy2c UTSW 6 136,686,830 (GRCm39) critical splice acceptor site probably null
R1350:Gucy2c UTSW 6 136,720,912 (GRCm39) critical splice donor site probably null
R1487:Gucy2c UTSW 6 136,725,824 (GRCm39) missense possibly damaging 0.79
R1680:Gucy2c UTSW 6 136,699,491 (GRCm39) missense probably damaging 1.00
R1751:Gucy2c UTSW 6 136,725,773 (GRCm39) splice site probably benign
R1791:Gucy2c UTSW 6 136,721,025 (GRCm39) missense probably damaging 1.00
R1953:Gucy2c UTSW 6 136,681,291 (GRCm39) missense probably damaging 1.00
R2135:Gucy2c UTSW 6 136,700,726 (GRCm39) missense probably damaging 1.00
R2227:Gucy2c UTSW 6 136,679,758 (GRCm39) missense probably damaging 1.00
R2350:Gucy2c UTSW 6 136,740,072 (GRCm39) missense probably damaging 0.98
R2906:Gucy2c UTSW 6 136,685,385 (GRCm39) missense probably damaging 1.00
R2907:Gucy2c UTSW 6 136,685,385 (GRCm39) missense probably damaging 1.00
R3699:Gucy2c UTSW 6 136,747,109 (GRCm39) missense probably damaging 1.00
R3972:Gucy2c UTSW 6 136,685,364 (GRCm39) missense probably damaging 1.00
R4613:Gucy2c UTSW 6 136,685,319 (GRCm39) missense probably damaging 1.00
R4732:Gucy2c UTSW 6 136,744,150 (GRCm39) missense probably damaging 1.00
R4733:Gucy2c UTSW 6 136,744,150 (GRCm39) missense probably damaging 1.00
R4776:Gucy2c UTSW 6 136,699,512 (GRCm39) missense probably damaging 1.00
R5087:Gucy2c UTSW 6 136,744,033 (GRCm39) missense possibly damaging 0.69
R5284:Gucy2c UTSW 6 136,740,041 (GRCm39) missense possibly damaging 0.56
R5366:Gucy2c UTSW 6 136,697,739 (GRCm39) missense probably damaging 0.99
R5466:Gucy2c UTSW 6 136,758,463 (GRCm39) nonsense probably null
R5911:Gucy2c UTSW 6 136,699,440 (GRCm39) missense probably damaging 1.00
R6160:Gucy2c UTSW 6 136,717,684 (GRCm39) nonsense probably null
R6367:Gucy2c UTSW 6 136,686,776 (GRCm39) missense probably damaging 1.00
R6441:Gucy2c UTSW 6 136,700,759 (GRCm39) missense probably damaging 0.98
R6812:Gucy2c UTSW 6 136,674,993 (GRCm39) missense probably benign
R6865:Gucy2c UTSW 6 136,747,127 (GRCm39) missense probably benign 0.13
R7065:Gucy2c UTSW 6 136,697,764 (GRCm39) missense probably damaging 1.00
R7078:Gucy2c UTSW 6 136,674,937 (GRCm39) missense probably benign 0.19
R7096:Gucy2c UTSW 6 136,705,339 (GRCm39) missense probably benign 0.11
R7138:Gucy2c UTSW 6 136,705,342 (GRCm39) missense probably damaging 1.00
R7343:Gucy2c UTSW 6 136,679,746 (GRCm39) missense probably damaging 1.00
R7538:Gucy2c UTSW 6 136,686,742 (GRCm39) missense probably damaging 1.00
R7587:Gucy2c UTSW 6 136,681,288 (GRCm39) missense probably damaging 1.00
R7666:Gucy2c UTSW 6 136,674,966 (GRCm39) missense probably benign
R7675:Gucy2c UTSW 6 136,693,030 (GRCm39) missense possibly damaging 0.91
R7822:Gucy2c UTSW 6 136,685,404 (GRCm39) missense probably damaging 1.00
R7842:Gucy2c UTSW 6 136,746,814 (GRCm39) splice site probably null
R7924:Gucy2c UTSW 6 136,740,053 (GRCm39) missense probably benign 0.35
R8078:Gucy2c UTSW 6 136,674,919 (GRCm39) missense probably damaging 1.00
R8094:Gucy2c UTSW 6 136,714,446 (GRCm39) missense probably benign 0.33
R8391:Gucy2c UTSW 6 136,681,213 (GRCm39) missense probably damaging 1.00
R8428:Gucy2c UTSW 6 136,704,892 (GRCm39) missense probably damaging 0.96
R9188:Gucy2c UTSW 6 136,700,756 (GRCm39) missense probably benign 0.44
R9189:Gucy2c UTSW 6 136,728,045 (GRCm39) missense probably benign
R9325:Gucy2c UTSW 6 136,743,992 (GRCm39) nonsense probably null
R9361:Gucy2c UTSW 6 136,714,429 (GRCm39) missense possibly damaging 0.80
R9413:Gucy2c UTSW 6 136,700,771 (GRCm39) missense possibly damaging 0.94
Z1088:Gucy2c UTSW 6 136,720,979 (GRCm39) missense probably benign
Z1177:Gucy2c UTSW 6 136,744,194 (GRCm39) missense probably benign 0.01
Z1177:Gucy2c UTSW 6 136,696,685 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-05